Down Syndrome in a Newborn Mrs. P, a 31-year-old woman, had an uneventful first pregnancy. At 16 weeks' gestation, a triple screen blood test was normal, indicating a 1/275 risk of Down Syndrome; based on this test result, prenatal diagnosis was not considered. An ultrasound examination performed at 18 weeks' gestation revealed no abnormalities. Mrs. P's family history is significant for a 12-yearold maternal first cousin with Down syndrome. At birth, Mr. and Mrs. P's infant daughter was noted to have hypotonia, a heart murmur, and facial features suggestive of Down syndrome. Mrs. P's physician met with her and Mr. P to discuss the suspicion that the infant had Down syndrome. Blood was obtained then for chromosomal studies; one week later, trisomy 21 (47, XX, +21) was confirmed.

STUDY QUESTIONS:

1. Based on the case, what are the risk factors of developing Down syndrome. Justify.

2. What is the role of genetics in the pathophysiology of Down syndrome?

3. What measures can be taken to help the patient with Down syndrome.

4. How does maternal age affects the incidence of Down syndrome?

5. What is Down syndrome? Based on the case, what are characteristics was observed?

6. Is genetic counseling recommended for this case? Explain.

 

Answer rating: 100% (QA)

1 The risk factors of developing Down syndrome in this case include Maternal family history Mrs P has a first cousin with Down syndrome which indicates a familial predisposition to the condition Havin... View the full answer